title: First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.
authors.affiliation: Department of Paediatrics and Neuropaediatrics, University of Göttingen, Germany.
authors.forename: G C
authors.initials: GC
authors.lastname: Korenke
authors.forename: E
authors.initials: E
authors.lastname: Krasemann
authors.forename: V
authors.initials: V
authors.lastname: Meier
authors.forename: W
authors.initials: W
authors.lastname: Beuche
authors.forename: D H
authors.initials: DH
authors.lastname: Hunneman
authors.forename: F
authors.initials: F
authors.lastname: Hanefeld
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000235:genetics* / Q000473:pathology; D019943:Amino Acid Substitution; D004247:DNA / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D004252:DNA Mutational Analysis; D019003:Deoxyribonuclease HpaII / Q000378:metabolism; D005091:Exons / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D017354:Point Mutation
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D008565:Membrane Proteins; D004247:DNA; D019003:Deoxyribonuclease HpaII